Canonical Allele Identifier: CA607285556

Gene: MMAB

Linked Data

• dbSNP Id: rs1364715786
• gnomAD v2: 12-109998712-ACC-A
• gnomAD v3: 12-109560907-ACC-A
• gnomAD v4: 12-109560907-ACC-A
• MyVariant Identifiers: chr12:g.109998713_109998714del (hg19) ; chr12:g.109560908_109560909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560908_109560909del , CM000674.2:g.109560908_109560909del	GRCh38
NC_000012.11:g.109998713_109998714del , CM000674.1:g.109998713_109998714del	GRCh37
NC_000012.10:g.108483096_108483097del	NCBI36
NG_007096.1:g.17589_17590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+131_584+132del MANE Select	ENSP00000445920.1:n.584+131_584+132del
ENST00000537496.5:c.*149+131_*149+132del	ENSP00000444793.1:n.*149+131_*149+132del
ENST00000540016.5:c.428+131_428+132del	ENSP00000474582.1:n.428+131_428+132del
ENST00000541763.6:c.809+131_809+132del	ENSP00000474981.1:n.809+131_809+132del
ENST00000544051.5:c.*465+131_*465+132del	ENSP00000438079.1:n.*465+131_*465+132del
ENST00000545712.6:c.584+131_584+132del	ENSP00000445920.1:n.584+131_584+132del
NM_052845.3:c.584+131_584+132del	NP_443077.1:n.584+131_584+132del
NR_038118.1:n.744+131_744+132del
XM_011538266.1:c.429+131_429+132del	XP_011536568.1:n.429+131_429+132del
XM_011538267.1:c.429+131_429+132del	XP_011536569.1:n.429+131_429+132del
XM_011538268.1:c.311+131_311+132del	XP_011536570.1:n.311+131_311+132del
XM_011538269.1:c.308+131_308+132del	XP_011536571.1:n.308+131_308+132del
XM_011538267.3:c.429+131_429+132del	XP_011536569.1:n.429+131_429+132del
XM_011538268.2:c.311+131_311+132del	XP_011536570.1:n.311+131_311+132del
XM_011538269.2:c.308+131_308+132del	XP_011536571.1:n.308+131_308+132del
XM_024448961.1:c.584+131_584+132del	XP_024304729.1:n.584+131_584+132del
NM_052845.4:c.584+131_584+132del MANE Select	NP_443077.1:n.584+131_584+132del
NR_038118.2:n.695+131_695+132del